Table 3 Mutation sites of mtDNA in MIEH individuals and controls
Site of mutation | Gene | Replacement | Homoplasmic/heteroplasmic variants | Number of mutations(n) | P value | Previously reporteda | Change of Amino acid | |
|---|---|---|---|---|---|---|---|---|
(MIEH) | (Controls) | |||||||
3902 | ND1 | A to T | heteroplasmic | 1 | 0 | 1 | NO | non-syn;D-V |
3905 | ND1 | T to A | heteroplasmic | 1 | 0 | 1 | NO | Non-syn: L-H |
3915 | ND1 | G to A | homoplasmic | 6 | 1 | 0.1234 | YES | Syn: G-G |
3918 | ND1 | A to G | homoplasmic | 3 | 1 | 0.6241 | YES | Syn: E-E |
3941 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | NO | Non-syn: N-S |
3948 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | YES | Syn:E-E |
3970 | ND1 | C to T | homoplasmic | 67 | 5 | 4.72e-16 | YES | Syn:L-L |
4017 | ND1 | C to T | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4025 | ND1 | C to T | homoplasmic | 3 | 1 | 0.6241 | YES | Non-syn: T-M |
4038 | ND1 | A to G | homoplasmic | 2 | 0 | 0.4994 | YES | Syn:G-G |
4047 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Syn:Y-Y |
4048 | ND1 | G to A | homoplasmic | 20 | 2 | 9.93e-05 | YES | Non-syn: D-N |
4071 | ND1 | C to T | homoplasmic | 24 | 2 | 7.77e-06 | YES | Syn:Y-Y |
4083 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Syn:F-F |
4086 | ND1 | C to T | homoplasmic | 19 | 1 | 3.29e-05 | YES | Syn:V-V |
4092 | ND1 | G to A | homoplasmic | 1 | 0 | 1 | YES | Syn:K-K |
4093 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | YES | Non-syn: T-A |
4104 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4113 | ND1 | G to A | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4116 | ND1 | C to T | homoplasmic | 1 | 0 | 1 | YES | Syn:F-F |
4117 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4129 | ND1 | A to G | homoplasmic | 3 | 0 | 0.2491 | YES | Non-syn: T-A |
4131 | ND1 | A to T | heteroplasmic | 1 | 0 | 1 | NO | Syn:T-T |
4134 | ND1 | A to T | heteroplasmic | 1 | 0 | 1 | NO | syn: A-A |
4135 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Non-syn: Y-H |
4136 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | YES | Non-syn: Y-H |
4140 | ND1 | C to T | homoplasmic | 1 | 0 | 1 | YES | Syn:P-P |
4161 | ND1 | C to T | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4164 | ND1 | A to G | homoplasmic | 14 | 1 | 8.83e-4 | YES | Syn:M-M |
4170 | ND1 | C to T | homoplasmic | 1 | 0 | 1 | YES | Syn:L-L |
4176 | ND1 | A to G | homoplasmic | 2 | 0 | 0.4994 | YES | Syn:W-W |
4200 | ND1 | A to T | heteroplasmic | 2 | 0 | 0.4994 | YES | Syn:L-L |
4203 | ND1 | A to G | homoplasmic | 4 | 0 | 0.1241 | YES | Syn:A-A |
4216 | ND1 | T to C | homoplasmic | 4 | 0 | 0.1241 | YES | Non-syn: Y-H |
4227 | ND1 | A to G | homoplasmic | 1 | 0 | 1 | YES | syn: M-M |
4233 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Non-syn: I-T |
4245 | ND1 | C to T | homoplasmic | 2 | 0 | 0.4994 | YES | Syn:S-S |
4248 | ND1 | T to C | homoplasmic | 39 | 2 | 3.25e-10 | YES | Syn:I-I |
4254 | ND1 | T to C | homoplasmic | 1 | 0 | 1 | YES | Syn:P-P |
4314 | tRNAIle | T to C | homoplasmic | 4 | 0 | 0.1241 | YES | tRNA |
4317 | tRNAIle | A to G | homoplasmic | 2 | 0 | 0.4994 | YES | tRNA |
4336 | tRNAGln | T to C | homoplasmic | 1 | 0 | 1 | YES | tRNA |
4386 | tRNAGln | T to C | homoplasmic | 8 | 0 | 0.0075 | YES | tRNA |
4394 | tRNAGln | C to T | homoplasmic | 10 | 0 | 0.0018 | YES | tRNA |
4401 | tRNAMet | A to G | homoplasmic | 1 | 0 | 1 | NO | tRNA |
4435 | tRNAMet | A to G | homoplasmic | 1 | 0 | 1 | YES | tRNA |
4452 | tRNAMet | T to C | homoplasmic | 1 | 0 | 1 | YES | tRNA |
4457 | tRNAMet | C to A | heteroplasmic | 1 | 0 | 1 | NO | tRNA |
4491 | ND2 | G to A | homoplasmic | 4 | 1 | 0.3734 | YES | Non-syn: V-I |
4515 | ND2 | G to C | heteroplasmic | 1 | 0 | 1 | NO | Non-syn: G-R |
4535 | ND2 | A to C | heteroplasmic | 2 | 0 | 0.4994 | NO | Syn:L-L |
4562 | ND2 | A to G | homoplasmic | 2 | 0 | 0.4994 | YES | Syn:V-V |
4563 | ND2 | G to T | heteroplasmic | 1 | 0 | 1 | NO | Syn:G-C |
4563 | ND2 | delG | 3 | 0 | 0.2491 | YES | ||
4574 | ND2 | A to T | heteroplasmic | 1 | 0 | 1 | NO | Syn:M-M |
4576 | ND2 | delA | 1 | 0 | 1 | YES | ||
4580 | ND2 | G to A | homoplasmic | 1 | 0 | 1 | YES | Syn:M-M |
4611 | ND2 | delA | 10 | 0 | 0.0018 | YES | ||
4612 | ND2 | delT | 2 | 0 | 0.4994 | YES | ||